Gene: GPR78

Alternate names for this Gene: -

Gene Summary: The protein encoded by this gene belongs to the G protein-coupled receptor family, which contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. This is an orphan receptor, which displays significant level of constitutive activity. Association analysis shows preliminary evidence for the involvement of this gene in susceptibility to bipolar affective disorder and schizophrenia. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 4

Location in Chromosome : 4p16.1

Description of this Gene: G protein-coupled receptor 78

Type of Gene: protein-coding

Gene: CPZ

Alternate names for this Gene: -

Gene Summary: This gene encodes a member of the metallocarboxypeptidase family. This enzyme displays carboxypeptidase activity towards substrates with basic C-terminal residues. It is most active at neutral pH and is inhibited by active site-directed inhibitors of metallocarboxypeptidases. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 4

Location in Chromosome : 4p16.1

Description of this Gene: carboxypeptidase Z

Type of Gene: protein-coding

rs2241069 in GPR78;CPZ gene and Body Fat Distribution PMID 30664634 2019 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.

rs3796727 in GPR78;CPZ gene and Neuroblastoma PMID 28545128 2017 Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma.